R37P (p.Arg37Pro) variant of SLC25A20 (O43772)
R37P (p.Arg37Pro) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R37P (p.Arg37Pro) variant details
- p.Arg37Pro
- ESP rs371250509
- ExAC rs371250509
- TOPMed rs371250509
- gnomAD rs371250509
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.94
- MetaLR 0.86
- MetaSVM 1.01
- CADD 28.90
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available